1/174. child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.- - - - - - - - - - ranking = 1keywords = x (Clic here for more details about this article) |
2/174. Subclinical hyperthyroidism and hyperkinetic behavior in children.The authors report three children who exhibited developmental learning disabilities (DLDs) associated with behavioral disturbances, such as attention deficit, hyperactivity, and autistic features. The thyroid function tests performed as a part of routine endocrinologic evaluation of children with DLDs revealed a hormonal profile consistent with hyperthyroidism. These children had no systemic signs of hyperthyroidism. Treatment with neomercazole resulted in good control of their hyperkinetic behavior and subsequent improvement in language function attributable to an increased attention span, thereby facilitating speech therapy. Although routine screening of all children with DLDs for thyroid dysfunction may not be cost-effective, selective screening of children with familial attention-deficit hyperactivity disorder and those with attention-deficit and hyperactivity in association with DLDs and pervasive developmental disorders appears to be justified.- - - - - - - - - - ranking = 1keywords = x (Clic here for more details about this article) |
3/174. An interdisciplinary team approach--a case report.A case study is presented as a means of demonstrating the advantage of an interdisciplinary approach. The paper familiarizes the reader with the contributions to be made by a team composed of an optometrist, speech pathologist/audiologist, psychologist, and educational diagnostician. Based on the authors' experiences, it would appear that the total team approach is a most beneficial way of assisting the child with a learning disability.- - - - - - - - - - ranking = 1keywords = x (Clic here for more details about this article) |
4/174. Evaluation of facilitated communication.Two case studies are presented to demonstrate the effectiveness of Facilitated communication (FC). A wide variety of sources of data have been examined and consistent behaviour found within FC interactions. There are indications that changes in behaviour of both people resulted at least in part from the use of FC.- - - - - - - - - - ranking = 1keywords = x (Clic here for more details about this article) |
5/174. White matter dementia in cadasil.Cerebral white matter disorders may be associated with profound neurobehavioral dysfunction. We report a 62-year-old man who had a slowly progressive 25-year history of personality change, psychosis, mood disorder, and dementia. neurologic examination disclosed abulia, impaired memory retrieval, and preserved language, with only minimal motor impairment. Neuropsychological testing found a sustained attention deficit, cognitive slowing, impaired learning with intact recognition, and perseveration. magnetic resonance imaging of the brain revealed extensive leukoencephalopathy. Right frontal brain biopsy showed ill-defined white matter pallor with hyaline narrowing of white matter arterioles. Granular osmiophilic material adjacent to vascular smooth muscle cells on electron microscopy of a skin biopsy, and an arginine for cysteine replacement at position 169 in the 4 EGF motif of the notch 3 region on chromosome 19q12 established the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil). This case illustrates that cadasil can manifest as an isolated neurobehavioral disorder over an extended time period. The dementia associated with cadasil closely resembles that which may occur with other white matter disorders, and represents an example of white matter dementia.- - - - - - - - - - ranking = 4keywords = x (Clic here for more details about this article) |
6/174. Longitudinal neuropsychological evaluation of a case of pineal tumor occurring in an adolescent girl.There has been a relative absence of studies that have longitudinally examined the neuropsychological profiles of patients suffering from pineal tumors. A case is reported of an adolescent girl with a pineoblastoma and spinal metastases who received extensive chemotherapy and cranio-spinal irradiation. Neuropsychological assessments conducted approximately 5 months and 2.5 years posttumor diagnosis revealed a diversity of impairments indicative of mild to moderate neuropsychological dysfunction. By the 2nd evaluation (2 years postbaseline) there was evidence of increased neurocognitive impairment suggestive of greater dysfunction of the patient's right, versus left, cerebral hemisphere. overall, the patient's neuropsychological profile coincided with the syndrome of Nonverbal learning Disabilities as proposed by Rourke and his colleagues (Rourke, 1987, 1988, 1995; Rourke & Tsatsanis, 1996). These findings are discussed in light of the syndrome of Nonverbal learning Disabilities (and the related white matter model) and the possible negative impact of the patient's pineal tumor and subsequent chemotherapy and cranio-spinal irradiation on her neuropsychological functioning.- - - - - - - - - - ranking = 3keywords = x (Clic here for more details about this article) |
7/174. Relation between heart rate and problem behaviors.A new methodological approach for understanding self-injury, aggression, and property destruction exhibited by individuals with severe developmental disabilities was evaluated in this descriptive study. Measures of heart-rate changes before, during, and after episodes of problem behavior were obtained in real time. Unique patterns of heart rate and problem behavior were documented for each participant. heart rate, identified as an indicator of negative arousal, was reliably associated with higher scores of perceived distress. These results indicate that further research is needed to examine the link between problem behavior and physiology. The study also suggests that physiological measurement can be included in the functional assessment process to further our understanding of the mechanisms underlying problem behavior.- - - - - - - - - - ranking = 2keywords = x (Clic here for more details about this article) |
8/174. Impaired capacity of cerebellar patients to perceive and learn two-dimensional shapes based on kinesthetic cues.This study addresses the issue of the role of the cerebellum in the processing of sensory information by determining the capability of cerebellar patients to acquire and use kinesthetic cues received via the active or passive tracing of an irregular shape while blindfolded. patients with cerebellar lesions and age-matched healthy controls were tested on four tasks: (1) learning to discriminate a reference shape from three others through the repeated tracing of the reference template; (2) reproducing the reference shape from memory by drawing blindfolded; (3) performing the same task with vision; and (4) visually recognizing the reference shape. The cues used to acquire and then to recognize the reference shape were generated under four conditions: (1) "active kinesthesia," in which cues were acquired by the blindfolded subject while actively tracing a reference template; (2) "passive kinesthesia," in which the tracing was performed while the hand was guided passively through the template; (3) "sequential vision," in which the shape was visualized by the serial exposure of small segments of its outline; and (4) "full vision," in which the entire shape was visualized. The sequential vision condition was employed to emulate the sequential way in which kinesthetic information is acquired while tracing the reference shape. The results demonstrate a substantial impairment of cerebellar patients in their capability to perceive two-dimensional irregular shapes based only on kinesthetic cues. There also is evidence that this deficit in part relates to a reduced capacity to integrate temporal sequences of sensory cues into a complete image useful for shape discrimination tasks or for reproducing the shape through drawing. Consequently, the cerebellum has an important role in this type of sensory information processing even when it is not directly associated with the execution of movements.- - - - - - - - - - ranking = 2keywords = x (Clic here for more details about this article) |
9/174. Use of technology to facilitate language skills in school-age children.technology offers numerous possibilities for facilitating language and literacy skills in school-age children and adolescents. Narrative skills can be addressed by the use of specialized programs as well as generic word processing software. writing skills can be targeted due to the variety of possibilities for input as well as options for supporting spelling and syntax. reading skills might be improved by the use of programs that focus on decoding, as well as hypertext tools that highlight the use of text patterns or signals.- - - - - - - - - - ranking = 3keywords = x (Clic here for more details about this article) |
10/174. The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.Gamma-glutamylcysteine synthetase catalyzes the first step in glutathione synthesis. The enzyme consists of 2 subunits, heavy and light, with the heavy subunit serving as the catalytic subunit. A patient with hemolytic anemia and low red blood cell glutathione levels was found to have a deficiency of gamma-glutamylcysteine synthetase activity. Examination of cDNA from the patient and her mother showed that she was homozygous and that her mother was heterozygous for a A-->T transversion at nt1109 producing a deduced amino acid change of His370Leu. The partial genomic structure of the catalytic subunit of gamma-glutamylcysteine synthetase (GLCLC) was determined, providing some intron/exon boundaries to make it possible to sequence an affected part of the coding region from genomic dna. The 1109A-->T mutation was not present in the dna of 38 normal subjects. In the course of these studies we found a diallelic polymorphism in nt 206 of an intron and another polymorphism that consisted of a duplication of a CAGC at cDNA nt1972-1975 in the 3' untranslated region. The 2 polymorphisms were found to be only in partial linkage disequilibrium.- - - - - - - - - - ranking = 2keywords = x (Clic here for more details about this article) |
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